A new study from Johns Hopkins finds that some patients diagnosed with cystic fibrosis (CF) lack any of the more than 1,000 reported disease-causing mutations in the only known CF gene. Scheduled for presentation Oct. 18 at the annual meeting of the American Society for Human Genetics in Baltimore, the findings also recently appeared in the New England Journal of Medicine.
The discovery may mean that another gene, as yet unidentified, is to blame for these cases, or perhaps these patients really have another, unknown disease, despite the similarity of symptoms, the researchers suggest.
Loss of the function of a protein called CFTR was identified more than a decade ago as the cause of CF, a life-shortening disease characterized by frequent, severe lung infections. In less severe cases, known as "non-classic" CF, patients retain some working CFTR, but not at normal levels. Over the years, scientists have linked these conditions to more than 1,000 changes in the gene for CFTR.
New High-Performance Center Translational Medical Engineering
26.04.2017 | Fraunhofer ITEM
A promising target for kidney fibrosis
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More and more automobile companies are focusing on body parts made of carbon fiber reinforced plastics (CFRP). However, manufacturing and repair costs must be further reduced in order to make CFRP more economical in use. Together with the Volkswagen AG and five other partners in the project HolQueSt 3D, the Laser Zentrum Hannover e.V. (LZH) has developed laser processes for the automatic trimming, drilling and repair of three-dimensional components.
Automated manufacturing processes are the basis for ultimately establishing the series production of CFRP components. In the project HolQueSt 3D, the LZH has...
Reflecting the structure of composites found in nature and the ancient world, researchers at the University of Illinois at Urbana-Champaign have synthesized thin carbon nanotube (CNT) textiles that exhibit both high electrical conductivity and a level of toughness that is about fifty times higher than copper films, currently used in electronics.
"The structural robustness of thin metal films has significant importance for the reliable operation of smart skin and flexible electronics including...
The nearby, giant radio galaxy M87 hosts a supermassive black hole (BH) and is well-known for its bright jet dominating the spectrum over ten orders of magnitude in frequency. Due to its proximity, jet prominence, and the large black hole mass, M87 is the best laboratory for investigating the formation, acceleration, and collimation of relativistic jets. A research team led by Silke Britzen from the Max Planck Institute for Radio Astronomy in Bonn, Germany, has found strong indication for turbulent processes connecting the accretion disk and the jet of that galaxy providing insights into the longstanding problem of the origin of astrophysical jets.
Supermassive black holes form some of the most enigmatic phenomena in astrophysics. Their enormous energy output is supposed to be generated by the...
The probability to find a certain number of photons inside a laser pulse usually corresponds to a classical distribution of independent events, the so-called...
Microprocessors based on atomically thin materials hold the promise of the evolution of traditional processors as well as new applications in the field of flexible electronics. Now, a TU Wien research team led by Thomas Müller has made a breakthrough in this field as part of an ongoing research project.
Two-dimensional materials, or 2D materials for short, are extremely versatile, although – or often more precisely because – they are made up of just one or a...
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